triolein and Addison-Disease

X-linked adrenoleukodystrophy (X-ALD) is a genetic disease associated with demyelination of the central nervous system, adrenocortical insufficiency and accumulation of very long chain fatty acids. It is a clinically heterogeneous disorder ranging from a severe childhood cerebral form to an asymptomatic form. The incidence in Japan is estimated to be between 1:30,000 and 1:50,000 boys as determined by a nationwide retrospective survey between 1990 and 1999, which found no cases with Addison's form. We reviewed the medical records of eleven Japanese boys with X-ALD from 1990 to 2010 in our institute. Eight patients were detected by neuropsychological abnormalities, whereas a higher prevalence of unrecognized adrenocortical insufficiency (5/11: 45%) was observed than previously recognized. While no neurological abnormalities were demonstrated in two brothers, the elder brother had moderate Addison's disease at diagnosis and the presymptomatic younger brother progressed to Addison's disease six months after the diagnosis of X-ALD. Early detection of impaired adrenal function as well as early identification of neurologically presymptomatic patients by genetic analysis is essential for better prognosis. Addison's form might be overlooked in Japan; therefore, X-ALD should be suspected in patients with adrenocortical insufficiency.

Topics: Addison Disease; Adrenal Glands; Adrenocorticotropic Hormone; Adrenoleukodystrophy; Child; Child, Preschool; Drug Combinations; Erucic Acids; Humans; Hydrocortisone; Incidence; Japan; Male; Prospective Studies; Retrospective Studies; Triolein

X-linked adrenoleukodystrophy is an inherited metabolic disease caused by the accumulation of saturated very long chain fatty acids (VLCFA). Given that the form of presentation can be primary adrenal insufficiency, diagnosis in affected males is important. Patient was a 4-year-old boy with attention deficit hyperactivity disorder, cutaneous-mucosal hyperpigmentation, and dehydration with hyponatremia and hyperpotassemia was diagnosed with adrenoleukodystrophy presenting as primary adrenal insufficiency. Antiadrenal antibodies: negative. Plasma VLCFA: C(26:0)=1.25mg/ml (0.18-0.48), C(24:0)/C(22:0) =1.53 (< 1), and C(26:0)/ C(22:0)=0.04 (< 0.02). Abdominal computed tomography: small adrenal glands. Cranial magnetic resonance imaging and evoked potentials: normal at diagnosis and with signs of white matter demyelination after 2 years of follow-up. Testing for an autoimmune etiology and adrenoleukodystrophy is important in boys with primary adrenal insufficiency before Addison's disease is diagnosed.

Topics: Addison Disease; Adrenoleukodystrophy; Child, Preschool; Combined Modality Therapy; Dietary Fats; Drug Combinations; Early Diagnosis; Erucic Acids; Fatty Acids; Fludrocortisone; Hormone Replacement Therapy; Humans; Hydrocortisone; Magnetic Resonance Imaging; Male; Triolein

Topics: Acromegaly; Addison Disease; Adult; Aged; Diabetes Complications; Endocrine System Diseases; Female; Glucose Tolerance Test; Humans; Intestinal Absorption; Malabsorption Syndromes; Male; Middle Aged; Thyroid Diseases; Triolein